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Journal Article
Neurology, ISSN 0028-3878, 2015, Volume 84, Issue 5, pp. 480 - 489
Journal Article
Epilepsia, ISSN 0013-9580, 07/2016, Volume 57, Issue 7, pp. 1027 - 1035
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2018, Volume 176, Issue 12, pp. 2841 - 2845
The PRICKLE1 (Prickle Planar Cell Polarity Protein 1‐MIM 608500) gene is involved in different phases of human development. The related diseases include... 
genetic epilepsy | progressive myoclonus epilepsy | epileptic encephalopathy | intellectual disability | POLARITY | MUTATION | GENETICS & HEREDITY | Autism | Myoclonus | Neural tube defects | Epilepsy | Encephalopathy | Polymicrogyria | Ataxia | Polarity | Corpus callosum
Journal Article
Epilepsia, ISSN 0013-9580, 07/2014, Volume 55, Issue 7, pp. 994 - 1000
Journal Article
Archives of Disease in Childhood, ISSN 0003-9888, 03/2018, Volume 103, Issue 3, pp. 304 - 304
Early onset epileptic encephalopathy (EOEE) presents in infancy and results in significant morbidity, disability and reduced life expectancy. 1 The aetiology... 
early onset epileptic encephalopathy | genetics | cost analysis | whole exome sequencing | PEDIATRICS | Families & family life | Cost analysis | Patients | Epilepsy | Encephalopathy | Cost control | Index Medicus | Abridged Index Medicus
Journal Article
by Platzer, Konrad and Yuan, Hongjie and Schütz, Hannah and Winschel, Alexander and Chen, Wenjuan and Hu, Chun and Kusumoto, Hirofumi and Heyne, Henrike O and Helbig, Katherine L and Tang, Sha and Willing, Marcia C and Tinkle, Brad T and Adams, Darius J and Depienne, Christel and Keren, Boris and Mignot, Cyril and Frengen, Eirik and Strømme, Petter and Biskup, Saskia and Döcker, Dennis and Strom, Tim M and Mefford, Heather C and Myers, Candace T and Muir, Alison M and LaCroix, Amy and Sadleir, Lynette and Scheffer, Ingrid E and Brilstra, Eva and van Haelst, Mieke M and van der Smagt, Jasper J and Bok, Levinus A and Møller, Rikke S and Jensen, Uffe B and Millichap, John J and Berg, Anne T and Goldberg, Ethan M and De Bie, Isabelle and Fox, Stephanie and Major, Philippe and Jones, Julie R and Zackai, Elaine H and Abou Jamra, Rami and Rolfs, Arndt and Leventer, Richard J and Lawson, John A and Roscioli, Tony and Jansen, Floor E and Ranza, Emmanuelle and Korff, Christian M and Lehesjoki, Anna-Elina and Courage, Carolina and Linnankivi, Tarja and Smith, Douglas R and Stanley, Christine and Mintz, Mark and McKnight, Dianalee and Decker, Amy and Tan, Wen-Hann and Tarnopolsky, Mark A and Brady, Lauren I and Wolff, Markus and Dondit, Lutz and Pedro, Helio F and Parisotto, Sarah E and Jones, Kelly L and Patel, Anup D and Franz, David N and Vanzo, Rena and Marco, Elysa and Ranells, Judith D and Di Donato, Nataliya and Dobyns, William B and Laube, Bodo and Traynelis, Stephen F and Lemke, Johannes R
Journal of Medical Genetics, ISSN 0022-2593, 07/2017, Volume 54, Issue 7, pp. 460 - 470
Journal Article
Epilepsia, ISSN 0013-9580, 06/2018, Volume 59, Issue 6, pp. 1166 - 1176
Journal Article